rs12272917
This variant is located in the PPP6R3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
bone tissue density
Medina-Gomez C et al. “Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.” Nature Communications 8(1):121 (2017)
Allele T
OR —
β 0.097
p 1.0e-9
N 10,414
Meta-analysisLarge GWAS
European, NR
Kemp JP et al. “Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.” Plos Genetics 10(6):e1004423 (2014)
Allele T
OR 0.12
p 2.0e-10
N 9,385
Large GWAS
multi-ancestry
About PPP6R3
Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
View all PPP6R3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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